Variant report

Variant	esv3388002
Chromosome Location	chr4:8070052-8073250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370291470	chr4:8070061-8070062	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs546699257	chr4:8070111-8070112	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568101156	chr4:8070150-8070151	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs146857197	chr4:8070157-8070158	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182264737	chr4:8070171-8070172	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575503090	chr4:8070188-8070189	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140287627	chr4:8070265-8070266	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28535319	chr4:8070269-8070270	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572679127	chr4:8070286-8070287	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540362217	chr4:8070289-8070290	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561837995	chr4:8070298-8070299	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116617687	chr4:8070357-8070358	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75636245	chr4:8070358-8070359	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562701032	chr4:8070368-8070369	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574180209	chr4:8070414-8070415	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367960765	chr4:8070421-8070422	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551760964	chr4:8070437-8070438	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35529007	chr4:8070462-8070463	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66561438	chr4:8070466-8070467	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546762362	chr4:8070467-8070468	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145389095	chr4:8070479-8070480	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528939383	chr4:8070527-8070528	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73796840	chr4:8070548-8070549	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568731695	chr4:8070570-8070571	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117201114	chr4:8070627-8070628	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557614340	chr4:8070649-8070650	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115970085	chr4:8070658-8070659	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187519844	chr4:8070660-8070661	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533737159	chr4:8070667-8070668	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149020378	chr4:8070672-8070673	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574089180	chr4:8070706-8070707	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544347023	chr4:8070717-8070718	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556545905	chr4:8070725-8070726	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577938044	chr4:8070729-8070730	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545752662	chr4:8070732-8070733	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192980261	chr4:8070760-8070761	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6829649	chr4:8070793-8070794	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543251100	chr4:8070854-8070855	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561288077	chr4:8070886-8070887	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529005350	chr4:8070895-8070896	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550381870	chr4:8070900-8070901	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184707196	chr4:8070912-8070913	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532781982	chr4:8070913-8070914	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532883562	chr4:8070932-8070933	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371198363	chr4:8070966-8070967	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs143038402	chr4:8070967-8070968	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533797224	chr4:8070978-8070979	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs555161441	chr4:8070985-8070986	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567323180	chr4:8071000-8071001	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs538366794	chr4:8071003-8071004	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8060200-8072400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:8066600-8070200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:8066600-8071600	Weak transcription	Gastric	stomach
4	chr4:8066800-8071400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:8066800-8075800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:8067000-8070800	Weak transcription	Pancreas	Pancrea
7	chr4:8067000-8072400	Weak transcription	Esophagus	oesophagus
8	chr4:8067400-8072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:8068800-8071000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:8068800-8071400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:8069000-8071000	Enhancers	Fetal Muscle Leg	muscle
12	chr4:8069200-8070200	Strong transcription	Aorta	Aorta
13	chr4:8069200-8070800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:8069200-8071400	Strong transcription	Spleen	Spleen
15	chr4:8069400-8070600	Bivalent Enhancer	HepG2	liver
16	chr4:8069600-8072000	Weak transcription	Right Ventricle	heart
17	chr4:8069800-8070400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr4:8069800-8070800	Weak transcription	Psoas Muscle	Psoas
19	chr4:8069800-8081000	Weak transcription	Right Atrium	heart
20	chr4:8070000-8070200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:8070000-8070200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:8070000-8070400	Enhancers	Brain Angular Gyrus	brain
23	chr4:8070000-8080400	Weak transcription	Left Ventricle	heart
24	chr4:8070200-8071000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:8070200-8071200	Weak transcription	Aorta	Aorta
26	chr4:8070200-8071400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:8070200-8082200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:8070400-8071800	Weak transcription	Brain Angular Gyrus	brain
29	chr4:8070400-8073200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr4:8070800-8071000	Enhancers	Brain Anterior Caudate	brain
31	chr4:8070800-8071000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr4:8070800-8071600	Enhancers	Psoas Muscle	Psoas
33	chr4:8070800-8071800	Strong transcription	Pancreas	Pancrea
34	chr4:8071000-8072800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:8071000-8075200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:8071200-8071400	Enhancers	Lung	lung
37	chr4:8071200-8071600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:8071200-8071600	Strong transcription	Aorta	Aorta
39	chr4:8071200-8071600	Weak transcription	Brain Anterior Caudate	brain
40	chr4:8071200-8071800	ZNF genes & repeats	Fetal Kidney	kidney
41	chr4:8071400-8071600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:8071400-8071600	Genic enhancers	Spleen	Spleen
43	chr4:8071400-8071800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr4:8071400-8072400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:8071400-8072400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:8071400-8073000	Weak transcription	Lung	lung
47	chr4:8071600-8072000	Weak transcription	Psoas Muscle	Psoas
48	chr4:8071600-8072200	Strong transcription	Spleen	Spleen
49	chr4:8071600-8072600	Enhancers	Gastric	stomach
50	chr4:8071600-8072800	Active TSS	Brain Anterior Caudate	brain

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